Abstract
In B-cell chronic lymphocytic leukemia (CLL) a high Bcl-2/Bax ratio contributes to death defiance. We sought to identify any genetic changes in the BAX as a possible mechanism for its altered expression in CLL. The BAX gene from the RL cell line and B-cells from 34 CLL patients and 25 controls were sequenced. A novel heterozygous G(−248)A polymorphism in the 5′-UTR was present in 69% of stage I–IV patients and 5.5% of stage 0 patients, and in 4.0% of controls. It was associated with reduced protein expression ( P=0.049), progression beyond Rai stage 0 ( P=0.00018) and failure to achieve complete response ( P=0.038).
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